Variant report

Variant	rs7612614
Chromosome Location	chr3:42820448-42820449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42820154..42820984-chr3:42922418..42923141,2	K562	blood:
2	chr3:42814737..42816425-chr3:42820280..42821787,2	MCF-7	breast:
3	chr3:42817338..42819840-chr3:42820314..42822422,2	MCF-7	breast:
4	chr3:42819275..42824150-chr3:42869754..42873104,6	MCF-7	breast:
5	chr3:42820160..42826427-chr3:42842009..42849039,11	K562	blood:

Variant related genes	Relation type
ENSG00000244607	Chromatin interaction
ENSG00000181061	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11129971	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11129973	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11708224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11720829	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12488173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13062528	0.84[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs1564176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1564177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1991438	0.81[AFR][1000 genomes]
rs339663	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339669	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339673	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339675	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339679	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35033264	1.00[MEX][hapmap]
rs35426298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4399859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404423	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682855	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683334	0.84[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs5027058	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60959614	0.85[AMR][1000 genomes]
rs6442065	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773636	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773675	1.00[MEX][hapmap]
rs6777653	1.00[MEX][hapmap]
rs6778695	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6787667	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6802779	1.00[MEX][hapmap]
rs7610350	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7611520	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7612782	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7614158	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7620291	0.88[AFR][1000 genomes]
rs7648688	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9755640	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9862147	0.85[AMR][1000 genomes]
rs9866005	0.81[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9882356	1.00[MEX][hapmap];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846968	chr3:42787469-42832979	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42813000-42821400	Weak transcription	Dnd41	blood
2	chr3:42813000-42821800	Weak transcription	HepG2	liver
3	chr3:42814600-42822200	Weak transcription	Fetal Heart	heart
4	chr3:42814800-42823800	Weak transcription	Lung	lung
5	chr3:42814800-42824800	Weak transcription	Gastric	stomach
6	chr3:42814800-42840800	Weak transcription	Spleen	Spleen
7	chr3:42815000-42821400	Weak transcription	Esophagus	oesophagus
8	chr3:42815000-42823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:42815000-42824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:42815000-42834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:42815200-42821000	Weak transcription	NHEK	skin
12	chr3:42815200-42821200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:42815200-42821400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:42815200-42821600	Weak transcription	Stomach Mucosa	stomach
15	chr3:42815200-42821600	Weak transcription	K562	blood
16	chr3:42815200-42821800	Weak transcription	Fetal Kidney	kidney
17	chr3:42815200-42822200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:42815200-42822200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:42815200-42822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:42815200-42822600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:42815200-42822600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:42815200-42822800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:42815200-42823000	Weak transcription	Colonic Mucosa	Colon
24	chr3:42815200-42823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:42815200-42823600	Weak transcription	Placenta	Placenta
26	chr3:42815200-42823800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:42815200-42823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:42815200-42823800	Weak transcription	Fetal Brain Female	brain
29	chr3:42815200-42823800	Weak transcription	Left Ventricle	heart
30	chr3:42815200-42823800	Weak transcription	GM12878-XiMat	blood
31	chr3:42815200-42823800	Weak transcription	HMEC	breast
32	chr3:42815200-42824000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:42815200-42824000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:42815200-42824000	Weak transcription	HSMM	muscle
35	chr3:42815200-42824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:42815200-42824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:42815200-42824400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:42815200-42824600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:42815200-42824600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:42815200-42824600	Weak transcription	NH-A	brain
41	chr3:42815200-42824800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:42815200-42824800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:42815200-42824800	Weak transcription	Fetal Thymus	thymus
44	chr3:42815200-42827000	Weak transcription	Fetal Lung	lung
45	chr3:42815200-42828200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:42815200-42834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:42815200-42834800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:42815200-42834800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:42815200-42834800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:42815200-42834800	Weak transcription	Fetal Muscle Leg	muscle

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